Variant report

Variant	rs4793979
Chromosome Location	chr17:46811238-46811239
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16943295	0.82[CHB][hapmap]
rs2411796	0.85[CHB][hapmap];0.84[ASN][1000 genomes]
rs4793973	0.85[CHB][hapmap]
rs4793980	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62065366	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7211412	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases
2	nsv532113	chr17:46598247-47588570	Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	453 gene(s)	inside rSNPs	diseases
3	esv2758459	chr17:46602673-46836837	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
4	esv2758694	chr17:46602673-46836837	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46810000-46811400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
2	chr17:46810000-46811600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
3	chr17:46810000-46811600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
4	chr17:46810000-46811600	Bivalent Enhancer	Colon Smooth Muscle	Colon
5	chr17:46810200-46811800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr17:46810200-46812000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
7	chr17:46810200-46812000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr17:46810200-46812000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
9	chr17:46810200-46812400	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr17:46810400-46811400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
11	chr17:46810400-46811600	Enhancers	Pancreas	Pancrea
12	chr17:46810400-46811800	Enhancers	Spleen	Spleen
13	chr17:46810400-46812600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr17:46810800-46811600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
15	chr17:46811000-46811800	Weak transcription	Right Atrium	heart
16	chr17:46811000-46812000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr17:46811000-46812200	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr17:46811000-46812800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr17:46811200-46811800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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